Bi-directional sequencing of exon 5 of the MYD88 gene which includes detection of the common L265P mutation. Testing is approved for specimens from the state of New York.
MYD88 mutation is the most common genetic abnormality in the activated B-cell-like (ABC) subtype of diffuse large B-cell lymphoma (DLBCL), detected in 40% of cases. Mutations are rare in the germinal center B-cell-like (GCB) subtype, so mutation analysis can be useful to differentiate between the ABC and GCB subtypes. The L265P mutation is present in >90% of Waldenstrom's macroglobulinemia (WM) and has been associated with increased risk of progression to WM in IgM MGUS patients. MYD88 is also implicated in susceptibility to BTK inhibitors in the treatment of B-cell neoplasms. Testing is available separately or in combination with three other contributory genes in the BTK Inhibitor Primary Susceptibility Panel.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
- FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
- Fresh tissue: 0.5 - 1 cm3 in RPMI
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.